FANCI

FANCI is a protein that in humans is encoded by the FANCI gene. It is a crucial component of the Fanconi anemia (FA) pathway, which is responsible for repairing DNA interstrand crosslinks. Mutations in this gene are associated with Fanconi anemia complementation group I.

Function

The FANCI protein is a part of the Fanconi anemia (FA) pathway, which is a DNA repair pathway. The FA pathway is activated in response to DNA damage, particularly interstrand crosslinks (ICLs). FANCI works in conjunction with FANCD2, another protein in the FA pathway, to form a heterodimer that is essential for the repair of DNA ICLs.

Clinical significance

Mutations in the FANCI gene can lead to Fanconi anemia, a rare genetic disorder that leads to bone marrow failure and can increase the risk of cancer. Specifically, mutations in FANCI are associated with Fanconi anemia complementation group I.

Research

Research into FANCI and its role in the FA pathway is ongoing. Understanding the function of FANCI and how mutations in the FANCI gene contribute to Fanconi anemia could lead to new treatments for the disease.

See also

• Fanconi anemia
• DNA repair
• FANCD2

References

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